SEPS1 Gene Discovered
Regulates Inflammation in Humans

October 10th 2005

Cell Inflammation

Researchers in the U.S. and Australia have discovered a gene that
regulates inflammation. They accessed the role of genetic variations in
the selenoprotein S (SEPS1, also called SELS or SELENOS), a gene
involved in stress response in the endoplasmic reticulum and
inflammation control.

This could have far-reaching implications because inflammation has been
shown to have an underlying role in cancer, cardiovascular disease,
diabetes, obesity and Alzheimer’s diseases. It has been reported that
the research could lead to a therapy in two to four years.
RNA
interference could play a role in therapy.

The researchers re-sequenced SEPS1 on chromosome 15 and genotyped 13
SNPs (single nucleotide polymorphisms) in 522 individual participants
from 92 families in Wisconsin and Texas. They compared various
measurable traits of inflammation including plasma levels.

John Blangero at the Southwest Foundation for Biomedical Research in San
Antonio led the research. The SEPS1 is has been described as a “garbage
truck” that helps clear abnormally shaped cells. Proteins build up when
cells are place under stress and inflammation develops when the faulty
proteins build up in the cells.

The Foundation found that people with a genetic variation that impairs
the SEPS1’s ability to clean the cells of the bad protein suffered
higher levels of inflammation. Originally the researchers identified the
“super gene” in sand rats from Israel. The researchers have now seen a
correlation in humans.

The Australian reports that "SEPS1 is the most powerful regulator of the
inflammatory response in humans." Now that the gene that plays a role
in inflammation has been identified, it is hoped that a treatment for
hardening of the arteries and type-2 diabetes can be developed for those
at risk.

This is the first gene of its kind according to Forbes Magazine online.
The research was published in the online version of the journal Nature
Genetics October 9th and was funded by ChemGenex Pharmaceuticals.